Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5072044011 | Benign familial neonatal-infantile seizures | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5378761012 | SeLFNIE - self-limited familial neonatal-infantile epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5378762017 | Self-limited familial neonatal-infantile epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5378763010 | Self-limited familial neonatal-infantile epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13988291000146117 | benigne familiaire neonatale-infantiele epileptische aanvallen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988301000146118 | benigne familiaire neonatale-infantiele insulten | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988311000146116 | benigne familiaire neonatale-infantiele convulsies (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988321000146114 | benigne familiaire neonatale-infantiele convulsies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988331000146111 | BFNIC | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5072043017 | Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Self-limited familial neonatal-infantile epilepsy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Self-limited familial neonatal-infantile epilepsy | Is a | Focal onset epileptic seizure | false | Inferred relationship | Some | ||
| Self-limited familial neonatal-infantile epilepsy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Self-limited familial neonatal-infantile epilepsy | Is a | Epilepsy | false | Inferred relationship | Some | ||
| Self-limited familial neonatal-infantile epilepsy | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Self-limited familial neonatal-infantile epilepsy | Finding site | Cerebrum | false | Inferred relationship | Some | 1 | |
| Self-limited familial neonatal-infantile epilepsy | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Self-limited familial neonatal-infantile epilepsy | Is a | Self-limited focal epilepsy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR